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Aberrant N-glycosylation may be a therapeutic target in carriers of a common and highly pleiotropic variant in the manganese transporter ZIP8

Summary: The treatment of defective glycosylation in clinical practice has been limited to patients with rare and severe phenotypes associated with congenital disorders of glycosylation (CDGs). Carried by approximately 5% of the human population, the discovery of the highly pleiotropic, missense var...

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Autori principali: Vartika Tomar, John Kang, Ruxian Lin, Steven R. Brant, Mark Lazarev, Caitlin Tressler, Kristine Glunde, Natasha Zachara, Joanna Melia
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2026-01-01
Serie:HGG Advances
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Accesso online:http://www.sciencedirect.com/science/article/pii/S2666247725001204
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